Kumar Jogender, Chatterjee Debajyoti, Lal Sadhna B, Kumar Praveen
Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India. Correspondence to: Dr Jogender Kumar, Assistant Professor, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh 160 012,India.
Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Indian Pediatr. 2020 Apr 15;57(4):349-355.
We discuss the case of a two-month-old girl admitted with complaints of progressive pallor, generalized body swelling and pale colored stool since the neonatal period. On examination, severe pallor, chubby cheeks and moderate hepatomegaly were noted. Investigations revealed isolated anemia, transaminitis, conjugated hyperbilirubinemia, prolonged prothrombin time and hyperlipidemia. She died due to severe sepsis, shock, and pulmonary hemorrhage. An autopsy revealed characteristic histopathology findings of cystic fibrosis in the liver, lungs, and pancreas. Genetic analysis performed on autopsy tissue was positive for F508del compound heterozygous (WT/F508del) mutation, confirming the diagnosis of cystic fibrosis.
